Canonical Allele Identifier: CA2188453

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361744G>T , CM000664.2:g.237361744G>T	GRCh38
NC_000002.11:g.238270387G>T , CM000664.1:g.238270387G>T	GRCh37
NC_000002.10:g.237935126G>T	NCBI36
NG_008676.1:g.57464C>A , LRG_473:g.57464C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6151C>A MANE Select	NP_004360.2:p.Pro2051Thr
ENST00000295550.9:c.6151C>A MANE Select	ENSP00000295550.4:p.Pro2051Thr
NM_004369.3:c.6151C>A , LRG_473t1:c.6151C>A	NP_004360.2:p.Pro2051Thr
NM_057166.4:c.4330C>A	NP_476507.3:p.Pro1444Thr
NM_057166.5:c.4330C>A	NP_476507.3:p.Pro1444Thr
NM_057167.3:c.5533C>A	NP_476508.2:p.Pro1845Thr
NM_057167.4:c.5533C>A	NP_476508.2:p.Pro1845Thr
ENST00000295550.8:c.6151C>A	ENSP00000295550.4:p.Pro2051Thr
ENST00000347401.7:c.4330C>A	ENSP00000315609.4:p.Pro1444Thr
ENST00000353578.8:c.5533C>A	ENSP00000315873.4:p.Pro1845Thr
ENST00000353578.9:c.5533C>A	ENSP00000315873.4:p.Pro1845Thr
ENST00000409809.5:c.5533C>A	ENSP00000386844.1:p.Pro1845Thr
ENST00000472056.5:c.4330C>A	ENSP00000418285.1:p.Pro1444Thr
XM_005246065.1:c.5551C>A	XP_005246122.1:p.Pro1851Thr
XM_005246066.1:c.4930C>A	XP_005246123.1:p.Pro1644Thr
XM_006712253.1:c.5650C>A	XP_006712316.1:p.Pro1884Thr
XM_011510574.1:c.6148C>A	XP_011508876.1:p.Pro2050Thr
XM_011510575.1:c.3745C>A	XP_011508877.1:p.Pro1249Thr
XM_017003304.1:c.3745C>A	XP_016858793.1:p.Pro1249Thr
XM_024452684.1:c.4930C>A	XP_024308452.1:p.Pro1644Thr